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- source_evidence_literature type ECO_0000212 NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_assertion description "[A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_assertion evidence source_evidence_literature NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_assertion SIO_000772 20140736 NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_assertion wasDerivedFrom befree-2016 NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_assertion wasGeneratedBy ECO_0000203 NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.
- befree-2016 importedOn "2016-02-19" NP792511.RAddmdz0wukpf4VH-O0AnrIrzmBXZrUcR7W3MezkIHbpc130_provenance.